Microcephaly-cardiac defect-lung malsegmentation syndrome
ORPHA:2516Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)23
Очень частый (80–99%)5
HP:0000252Microcephaly
HP:0001511Intrauterine growth retardation
HP:0001629Ventricular septal defect
HP:0002101Abnormal lung lobation
HP:0100543Cognitive impairment
Частый (30–79%)18
HP:0000104Renal agenesis
HP:0000175Cleft palate
HP:0000347Micrognathia
HP:0000383Abnormality of periauricular region
HP:0000430Underdeveloped nasal alae
HP:0000465Webbed neck
HP:0000470Short neck
HP:0000581Blepharophimosis
HP:0001252Hypotonia
HP:0001387Joint stiffness
HP:0001660Truncus arteriosus
HP:0001679Abnormal aortic morphology
HP:0002705High, narrow palate
HP:0004467Preauricular pit
HP:0006610Wide intermamillary distance
HP:0007598Bilateral single transverse palmar creases
HP:0008678Renal hypoplasia/aplasia
HP:0009882Short distal phalanx of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)